Down Syndrome

Friday, May 4, 20120 comments

Down Syndrome

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Most common Autosomal Abnormality

 

C/P

- M.R ( never sever )

- Development retardation

- Hypotonia

- Head : Brachycephalic Microcephaly Flat occiput Silky hair.

- Eye :

  1. - Upward slanting - Hypertelorism " pseudo " MCQ
  2. - Medial epicanthic fold - Brush field spot
  3. - Nystagmus - Cataract
  4. - Narrow palpebral fissure

- Nose : - Depressed nasal bridge.

- Ear : - small – low set – back . displaced.

- Tongue : - protruded - fissured

- Neck : - short - webbed

- Hand

  • - brachydactyly - clinodacctyly
  • - simian crease : Transverse palmer crease partial or complete

- Foot :

  • - Wide space ( ) big , 2nd toe
  • - Syndal line : deep planter crease

Associated Cong. Anomalies ﴿

1 ) Abdomen : * Diastatic recti * Umbilical Hernia * Cong. Mega colon

2 ) U.T : * Imperforated anus. * Duodenal atresia ( i commonest )

3 ) CHD : - 50%

- Atreo-venticular canal defect ( commonest ) مﺎھ

- VSD

Complication :

* MR : Accident

* GIT : Anomalies . . . .

* CHD :

  • HF
  • Recurrent chest inf.( commonest Presentation )

* Leukemia

  • 20 times > General population

Investigations :

Prenatal

After birth

  1. - chorionic villi sampling 8wk
  2. - Amniocentesis 16 wk
  3. - Mother Karyotyping
  • in old age
  • exposure to radiation
  1. - karyotype : to Determine CytogenicType , Recurrence risk.
  2. - CVS : X- ray , ECG , Echo
  3. - BL : CBC à leukemia
  4. - Barium study à GIT anomaly
  5. - Radiology à U.T anomaly
  6. - Thyroid function Tests : ( TSH ,T3 , T4)

D.D

Mongoloid facies

- Racial

- Ch.hemolytic Anemia

- congenital Hypertelorism

 

MR

- Cretinism - Hydrocephalous C.P

- Microcephally - Phenylketonuria

- Hydrocephally - Galactosemia

 

Other trisomy

18 Edward ( Hypertonia), 13 Patou (polydactyly)

TTT:

- Of cong. Anomalies & Associated disorder

+ Genetic counseling

- Social – Educational , Behavioral Therapy.

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